Variant report

Variant	rs7127863
Chromosome Location	chr11:5654481-5654482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1160699	1.00[ASN][1000 genomes]
rs12226152	0.82[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.93[YRI][hapmap]
rs12278387	1.00[CHB][hapmap]
rs17304278	1.00[CHB][hapmap]
rs2342381	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892472	1.00[ASN][1000 genomes]
rs7941976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs904376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv1041568	chr11:5585716-5765688	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1048455	chr11:5609783-5655393	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1053414	chr11:5612989-6030212	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv896947	chr11:5631972-5659680	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv553273	chr11:5639873-5871831	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7127863	KRTAP5-5	cis	cerebellum	SCAN

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5647000-5655200	Weak transcription	Fetal Thymus	thymus
2	chr11:5647000-5655800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr11:5647000-5666800	Weak transcription	Fetal Brain Male	brain
4	chr11:5647000-5698800	Weak transcription	Colonic Mucosa	Colon
5	chr11:5647200-5655000	Weak transcription	Small Intestine	intestine
6	chr11:5647200-5655600	Weak transcription	NHLF	lung
7	chr11:5647400-5654600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:5647400-5654600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:5647400-5654600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:5647400-5654600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr11:5647400-5654800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr11:5647400-5655000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:5647400-5655000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:5647400-5655400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:5647400-5663000	Weak transcription	Aorta	Aorta
16	chr11:5647400-5663000	Weak transcription	Gastric	stomach
17	chr11:5647400-5663000	Weak transcription	Thymus	Thymus
18	chr11:5647400-5663400	Weak transcription	Esophagus	oesophagus
19	chr11:5647400-5664600	Weak transcription	Fetal Kidney	kidney
20	chr11:5647400-5667200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:5647400-5669400	Weak transcription	Right Ventricle	heart
22	chr11:5647400-5675600	Weak transcription	Pancreas	Pancrea
23	chr11:5647400-5689400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:5647600-5654600	Weak transcription	Colon Smooth Muscle	Colon
25	chr11:5647600-5654600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr11:5647600-5654800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:5647600-5655000	Weak transcription	Fetal Intestine Large	intestine
28	chr11:5647600-5655000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr11:5647600-5656000	Weak transcription	Osteobl	bone
30	chr11:5647600-5657600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr11:5647600-5662000	Weak transcription	NHDF-Ad	bronchial
32	chr11:5647600-5665600	Weak transcription	Stomach Mucosa	stomach
33	chr11:5647600-5665800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:5647600-5668000	Weak transcription	A549	lung
35	chr11:5647800-5655000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:5647800-5656000	Weak transcription	Fetal Intestine Small	intestine
37	chr11:5647800-5690600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr11:5648000-5657400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr11:5648200-5655800	Weak transcription	Spleen	Spleen
40	chr11:5648400-5663200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:5648800-5655000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr11:5648800-5660000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:5649000-5655000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:5649200-5654600	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr11:5649200-5662400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr11:5649200-5695600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:5649400-5654600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr11:5649400-5655000	Weak transcription	Lung	lung
49	chr11:5650000-5654600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr11:5653200-5665400	Strong transcription	Primary T cells from cord blood	blood

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